Objective: To investigate two single nucleotide polymorphism sites of IRF5 and TLR-9 and to detect their relationship with SLE (systemic lupus erythematosus) in a Han population from Shandong province.
Methods: The polymorphisms of rs2004640 G/T, rs10954213 G/A in IRF-5 and rs187084C/T, rs352139A/G in TLR-9 were detected with PCR-RFLP in 92 cases of SLE and 88 healthy controls. The genotype and allele frequencies were calculated and analyzed.
Results: (1) The genotype frequencies of GG, GT and TT in rs2004640 site in SLE were 0.198, 0.521 and 0.281 respectively. The difference was significant between SLE and controls (chi(2) = 8.73, P < 0.05); the genotype frequencies of GG, GA and AA at rs109542130 site in SLE were 0.318, 0.409 and 0.273 respectively. The difference was significant between SLE and controls (chi(2) = 6.36, P < 0.05). (2) The genotype frequencies of CC, CT and TT at rs187084 site in SLE were 0.185, 0.413 and 0.402 respectively. There was no difference between SLE and controls (chi(2) = 2.99, P > 0.05); the genotype frequencies of AA, AG and GG at rs352139 site in SLE were 0.228, 0.533 and 0.239 respectively. There was no difference between SLE and controls (chi(2) = 4.54, P > 0.05).
Conclusion: The polymorphism of rs2004640 and rs10954213 in IRF5 may be associated with SLE in the population of Han nationality from Shandong province. However, the polymorphism of rs187084 and rs352139 in TLR-9 is not associated with SLE.